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Case Reports
. 2025 Mar;197(3):e63921.
doi: 10.1002/ajmg.a.63921. Epub 2024 Nov 1.

CTNND1-Related Disorder: New Insight on Prenatal Phenotype

B Conti  1 , C Di Napoli  2 , S Hafdaoui  1 , V Nicotra  2 , C Cesaretti  2 , L Runza  3 , V Accurti  4 , S Boito  4 , M Iascone  5 , D Marchetti  5 , R Silipigni  6 , P Finelli  6 , F Natacci  2
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Free article
Case Reports

CTNND1-Related Disorder: New Insight on Prenatal Phenotype

B Conti et al. Am J Med Genet A. 2025 Mar.
Free article

Abstract

CTNND1 is a gene located in 11q12.1, encoding for p120 catenin, a protein involved in maintaining adherent junctions, regulating the epithelial-mesenchymal transition, and transcriptional signaling of different cellular pathways. Pathogenic variants in CTNND1 are classically associated with isolated cleft palate and Blefaro-cheilo-dontic syndrome, an autosomal dominant condition characterized by abnormalities of the eyelid. Considering different signs and symptoms associated first with Blefaro-cheilo-dontic syndrome and later specifically with CTNND1, Ahlaratani and colleagues proposed a wider developmental role for CTNND1 than previously described, associating a broader phenotypic spectrum. This report describes a prenatal case in which a CTNND1 pathogenic variant and reverse phenotyping allowed a diagnosis of Blefaro-cheilo-dontic syndrome associated with characteristics never related to Blefaro-cheilo-dontic syndrome or CTNND1, such as hydrocephalus. This report is the first detailed fetal case of Blefaro-cheilo-dontic syndrome, and the new feature reported is consistent with CTNND1 developmental role and may add new insights into the phenotype spectrum that is being defined.

Keywords: CTNND1; BCDS; Blefaro‐cheilo‐dontic syndrome; prenatal phenotype; reverse phenotyping; whole exome sequencing (WES).

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References

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